Canonical Allele Identifier: CA10589664

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266475
• ClinVar RCV Id: RCV000257865 ; RCV001022437 ; RCV001859514 ; RCV003477875
• dbSNP Id: rs886040230
• gnomAD v4: 17-43076564-C-A
• MyVariant Identifiers: chr17:g.41228581C>A (hg19) ; chr17:g.43076564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076564C>A , CM000679.2:g.43076564C>A	GRCh38
NC_000017.10:g.41228581C>A , CM000679.1:g.41228581C>A	GRCh37
NC_000017.9:g.38482107C>A	NCBI36
NG_005905.2:g.141420G>T , LRG_292:g.141420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4405G>T	ENSP00000417241.2:p.Glu1469Ter
ENST00000470026.6:c.4408G>T	ENSP00000419274.2:p.Glu1470Ter
ENST00000473961.6:c.4282G>T	ENSP00000420201.2:p.Glu1428Ter
ENST00000476777.6:c.4402G>T	ENSP00000417554.2:p.Glu1468Ter
ENST00000477152.6:c.4330G>T	ENSP00000419988.2:p.Glu1444Ter
ENST00000478531.6:c.1096G>T	ENSP00000420412.2:p.Glu366Ter
ENST00000489037.2:c.4330G>T	ENSP00000420781.2:p.Glu1444Ter
ENST00000493919.6:c.958G>T	ENSP00000418819.2:p.Glu320Ter
ENST00000494123.6:c.4408G>T	ENSP00000419103.2:p.Glu1470Ter
ENST00000497488.2:c.3520G>T	ENSP00000418986.2:p.Glu1174Ter
ENST00000618469.2:c.4408G>T	ENSP00000478114.2:p.Glu1470Ter
ENST00000634433.2:c.4285G>T	ENSP00000489431.2:p.Glu1429Ter
ENST00000644379.2:c.4474G>T	ENSP00000496570.2:p.Glu1492Ter
ENST00000644555.2:c.958G>T	ENSP00000494614.2:p.Glu320Ter
ENST00000652672.2:c.4267G>T	ENSP00000498906.2:p.Glu1423Ter
ENST00000484087.6:c.970G>T	ENSP00000419481.2:p.Glu324Ter
ENST00000700182.1:c.1015G>T	ENSP00000514849.1:p.Glu339Ter
ENST00000357654.9:c.4408G>T MANE Select	ENSP00000350283.3:p.Glu1470Ter
ENST00000471181.7:c.4471G>T	ENSP00000418960.2:p.Glu1491Ter
ENST00000644379.1:c.795G>T
ENST00000352993.7:c.982G>T	ENSP00000312236.5:p.Glu328Ter
ENST00000357654.7:c.4408G>T	ENSP00000350283.3:p.Glu1470Ter
ENST00000461221.5:c.*4191G>T	ENSP00000418548.1:n.*4191G>T
ENST00000461574.1:c.699G>T
ENST00000468300.5:c.1096G>T	ENSP00000417148.1:p.Glu366Ter
ENST00000471181.6:c.4471G>T	ENSP00000418960.2:p.Glu1491Ter
ENST00000478531.5:c.1096G>T	ENSP00000420412.1:p.Glu366Ter
ENST00000484087.5:c.721G>T	ENSP00000419481.1:p.Glu241Ter
ENST00000487825.5:c.724G>T	ENSP00000418212.1:p.Glu242Ter
ENST00000491747.6:c.1096G>T	ENSP00000420705.2:p.Glu366Ter
ENST00000493795.5:c.4267G>T	ENSP00000418775.1:p.Glu1423Ter
ENST00000493919.5:c.958G>T	ENSP00000418819.1:p.Glu320Ter
ENST00000586385.5:c.5-12613G>T	ENSP00000465818.1:n.5-12613G>T
ENST00000591534.5:c.-43-2043G>T	ENSP00000467329.1:n.-43-2043G>T
ENST00000591849.5:c.-98-26374G>T	ENSP00000465347.1:n.-98-26374G>T
ENST00000621897.1:n.299G>T
NM_007294.3:c.4408G>T , LRG_292t1:c.4408G>T	NP_009225.1:p.Glu1470Ter
NM_007297.3:c.4267G>T	NP_009228.2:p.Glu1423Ter
NM_007298.3:c.1096G>T	NP_009229.2:p.Glu366Ter
NM_007299.3:c.1096G>T	NP_009230.2:p.Glu366Ter
NM_007300.3:c.4471G>T	NP_009231.2:p.Glu1491Ter
NR_027676.1:n.4544G>T
NM_007294.4:c.4408G>T MANE Select	NP_009225.1:p.Glu1470Ter
NM_007297.4:c.4267G>T	NP_009228.2:p.Glu1423Ter
NM_007299.4:c.1096G>T	NP_009230.2:p.Glu366Ter
NM_007300.4:c.4471G>T	NP_009231.2:p.Glu1491Ter
NR_027676.2:n.4585G>T